Author/Authors :
Elfandi, Lamia School of Biological Sciences - The Libyan Academy - Tripoli, Libya , Said, Ghada Department of Genetic Engineering - Biotechnology Research Center (BTRC) - Twisha - Tripoli, Libya , Saleh, Saleh Suleiman Department of Genetic Engineering - Biotechnology Research Center (BTRC) - Twisha - Tripoli, Libya , Marwan, Mohamed Faculty of Sciences - Tripoli University - Tripoli, Libya , Enattah, Nabil Department of Genetic Engineering - Biotechnology Research Center (BTRC) - Twisha - Tripoli, Libya
Abstract :
Background: Breast cancer is the most common malignancy among women. It
is estimated that 1 in 10 women worldwide is affected by breast cancer during their
lifetime. In 5 to 10% of breast cancer patients, the disease results from a hereditary
predisposition, which can be attributable to mutations in either of two tumor
suppressor genes, BRCA1 and BRCA2 to a large extent. BRCA2 6174delT
mutation constitutes the common mutant alleles which predispose to hereditary
breast cancer in the Ashkenazi population with a reported carrier frequency of
1.52% . In this study,we investigated the presence of the 6174delTmutation of the
BRCA2 gene in Libyan woman affected with breast cancer and compared the
results with those of other population groups.
Methods: Eighty- five Libyan women with breast cancer in additions to 5
relatives of the patients (healthy individuals) were recruited to this study. We
obtained clinical information, family history, and peripheral blood for DNA
extraction and analyzed the data using multiplex mutagenic polymerase chain
reaction (MS-PCR) for detection of 6174delT mutation in theBRCA2gene .
Results: The 6174delT of the BRCA2 gene was not detected either in the 85
patients with breast cancer (18 with familial breast cancer and 67 with sporadic
breast cancer) nor in the 5 healthy individuals.
Conclusions: The present study showed that the 6174delT of the BRCA2 gene
was not detectable using mutagenic PCR in the Libyan patients with breast cancer
and can be considered to be exceedingly rare.
Keywords :
BRCA2 gene , breast cancer , polymorphisms , 6174delT